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International Journal of Pediatric Otorhinolaryngology
|
December 30, 2019
Panel 5: Impact of otitis media on quality of life and development
Preben Homøe, Christian H Heidemann, Roger Amj Damoiseaux, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 5, 1997
Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome
B U Bender, C Altehöfer, A Januszewicz, et al.
Clinical Genetics
|
August 5, 2010
Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
C Evers, P H Heidemann, D Dunstheimer, et al.
Plos One
|
June 14, 2012
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation
Eva Müller, Desiree Dunstheimer, Jürgen Klammt, et al.
Neuropediatrics
|
April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy
V Peters, J M Penzien, G Reiter, et al.
The Journal of Clinical Investigation
|
March 20, 2002
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
Bengt Hansske, Christian Thiel, Torben Lübke, et al.
European Journal of Cancer (Oxford, England : 1990)
|
February 13, 2001
Disseminated choriocarcinoma in infancy is curable by chemotherapy and delayed tumour resection
M E Blohm, G Calaminus, A K Gnekow, et al.
Human Reproduction (Oxford, England)
|
February 13, 2019
Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY
P H Vogt, B Besikoglu, M Bettendorf, et al.
Human Mutation
|
March 27, 1999
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online
A Taillandier, L Zurutuza, F Muller, et al.
Systems Biology in Reproductive Medicine
|
April 28, 2022
Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks<sup>§</sup>
Peter H Vogt, Banu Besikoglu, Markus Bettendorf, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 62) with videos related to
Sort By:
Page
of 7
International Journal of Pediatric Otorhinolaryngology
|
December 30, 2019
Panel 5: Impact of otitis media on quality of life and development
Preben Homøe, Christian H Heidemann, Roger Amj Damoiseaux, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 5, 1997
Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome
B U Bender, C Altehöfer, A Januszewicz, et al.
Clinical Genetics
|
August 5, 2010
Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
C Evers, P H Heidemann, D Dunstheimer, et al.
Plos One
|
June 14, 2012
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation
Eva Müller, Desiree Dunstheimer, Jürgen Klammt, et al.
Neuropediatrics
|
April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy
V Peters, J M Penzien, G Reiter, et al.
The Journal of Clinical Investigation
|
March 20, 2002
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
Bengt Hansske, Christian Thiel, Torben Lübke, et al.
European Journal of Cancer (Oxford, England : 1990)
|
February 13, 2001
Disseminated choriocarcinoma in infancy is curable by chemotherapy and delayed tumour resection
M E Blohm, G Calaminus, A K Gnekow, et al.
Human Reproduction (Oxford, England)
|
February 13, 2019
Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY
P H Vogt, B Besikoglu, M Bettendorf, et al.
Human Mutation
|
March 27, 1999
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online
A Taillandier, L Zurutuza, F Muller, et al.
Systems Biology in Reproductive Medicine
|
April 28, 2022
Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks<sup>§</sup>
Peter H Vogt, Banu Besikoglu, Markus Bettendorf, et al.
Page
of 7